前列腺六次跨膜蛋白-2基因多态性与新疆维吾尔族人糖尿病的相关性

摘要

目的 探讨前列腺六次跨膜蛋白-2(STAMP2)基因变异与新疆维吾尔族糖尿病的关系.方法 采用以流行病学调查为基础的病例-对照研究,选取1838例维吾尔族作为研究对象,根据是否患有糖尿病分成糖尿病组(n=274)和对照组(n=1564).首先在48例维吾尔族糖尿病患者中测序筛查STAMP2基因功能区的变异位点,选取代表性变异位点应用TaqMan-PCR在研究人群中进行基因型鉴定及病例-对照关联研究.结果 在STAMP2基因的功能区共发现10个新的和6个已知的变异位点.在总人群中,rs8122位点基因型频率在对照组与糖尿病组间的差异具有统计学意义(P＜0.05),rs1981529及rs34741656基因型分布在糖尿病组与对照组中差异无统计学意义(P＞0.05).在总人群中不同基因型组间空腹胰岛素及在女性不同基因型组间稳态模型评估法指数差异具有统计学意义(P＜0.05),但在校正P值后差异无统计学意义(P＞0.05).在男性人群中,STAMP2基因rs8122变异不同基因型组间各项指标差异无统计学意义(P＞0.05).结论 STAMP2基因3个代表性SNP(rs8122、rs1981529及rs34741656)可能与新疆维吾尔族人糖尿病无关.%Objective To investigate the association between the genetic variations of six transmembrance protein of prostate 2 (STAMP2) with type 2 diabetes mellitus (T2DM) in Xinjiang Uygur population. Methods A case-control study was conducted based on epidemiological investigation. A total of 1838 Uygur subjects were selected and divided into two groups: T2DM group ( n = 274) and control group ( n = 1564). All exons, flanking introns, and the promoter regions of STAMP2 gene were sequenced in 48 Uygur Xinjiang population with diabetes. Representative variations selected were genotyped by TaqMan-PCR method in all individuals.Results Ten noval and 6 known variations in the STAMP2 gene were identified. The distribution of genotype rs8122 significantly differed between T2DM group and control group (P =0. 05) , whereas the distribution of genotypes rsl981529 and rs34741656 showed no such difference. The fasting insulin in the total cohort and ho-meostasis model of assessment index in females showed significant difference between these two groups ( P < 0. 05 ) , while the adjusted P value showed no statistical significance (P > 0. 05 ). In the male population, the different genotypes of rs8122 variation of STAMP2 gene were not significantly different (P > 0. 05). Conclusion Three polymorphisms (rs8122, rsl981529 and rs34741656) of STAMP2 gene may be not related with T2DM in Xinjiang Uygur population.